, 2022. Ultra-deep whole genome bisulfite sequencing reveals a single methylation hotspot in human brain mitochondrial DNA. Epigenetics.
, 2022. GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10-Year Population-Based Study. Mov Disord.
, 2022. A nationwide study of the incidence, prevalence and mortality of Parkinson's disease in the Norwegian population. NPJ Parkinsons Dis 8(1):19
, 2022. The NADPARK study: A randomized phase I trial of nicotinamide riboside supplementation in Parkinson's disease. Cell Metab 34(3):396-407.e6
, 2021. Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish. Front Mol Neurosci 14:723912
, 2021. The impact of common genetic variants in cognitive decline in the first seven years of Parkinson's disease: A longitudinal observational study. Neurosci Lett 764:136243
, 2021. Base excision repair causes age-dependent accumulation of single-stranded DNA breaks that contribute to Parkinson disease pathology. Cell Rep 36(10):109668
, 2021. NSAID use is not associated with Parkinson's disease incidence: A Norwegian Prescription Database study. PLoS One 16(9):e0256602
, 2021. Real-World Dosing of OnabotulinumtoxinA and IncobotulinumtoxinA for Cervical Dystonia and Blepharospasm: Results from TRUDOSE and TRUDOSE II. Toxins (Basel) 13.
, 2021. Genome-wide histone acetylation analysis reveals altered transcriptional regulation in the Parkinson's disease brain. Mol Neurodegener 16(1):31
, 2021. Distinct Mitochondrial Remodeling During Mesoderm Differentiation in a Human-Based Stem Cell Model. Front Cell Dev Biol 9:744777
, 2020. Common gene expression signatures in Parkinson's disease are driven by changes in cell composition. Acta Neuropathol Commun 8(1):55
, 2020. Targeting NAD+ in translational research to relieve diseases and conditions of metabolic stress and ageing. Mech Ageing Dev 186:111208
, 2020. Mitochondrial respiratory chain deficiency correlates with the severity of neuropathology in sporadic Creutzfeldt-Jakob disease. Acta Neuropathol Commun 8(1):50
, 2020. Differential transcript usage in the Parkinson's disease brain. PLoS Genet 16(11):e1009182
, 2020. LIVE@Home.Path-innovating the clinical pathway for home-dwelling people with dementia and their caregivers: study protocol for a mixed-method, stepped-wedge, randomized controlled trial. Trials 21(1):510
, 2020. Using urine to diagnose large-scale mtDNA deletions in adult patients. Ann Clin Transl Neurol 7(8):1318-1326
, 2020. Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations. EMBO Mol Med 12(10):e12146
, 2020. Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci. PLoS One 15(10):e0239824
, 2019. Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genet Med 21(4):1027
, 2019. Poly-ADP-ribose assisted protein localization resolves that DJ-1, but not LRRK2 or α-synuclein, is localized to the mitochondrial matrix. PLoS One 14(7):e0219909
, 2019. Mitochondrial DNA depletion in sporadic inclusion body myositis. Neuromuscul Disord 29(3):242-246
, 2018. No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. Brain 141(3):e16
, 2018. Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease. J Inherit Metab Dis 41(1):153
, 2018. Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients. J Med Genet 55(1):21-27
, 2018. Ultradeep mapping of neuronal mitochondrial deletions in Parkinson's disease. Neurobiol Aging 63:120-127
, 2018. 3,3'-Diaminobenzidine staining interferes with PCR-based DNA analysis. Sci Rep 8(1):1272
, 2018. Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage. Acta Neuropathol 135(3):409-425
, 2018. Beta-propeller protein-associated neurodegeneration: a case report and review of the literature. Clin Case Rep 6(2):353-362
, 2018. Dopaminergic and Opioid Pathways Associated with Impulse Control Disorders in Parkinson's Disease. Front Neurol 9:109
, 2018. Alzheimer disease associated variants in SORL1 accelerate dementia development in Parkinson disease. Neurosci Lett 674:123-126
, 2018. Movement disorders in mitochondrial disease: a clinicopathological correlation. Curr Opin Neurol 31(4):472-483
, 2018. Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease. Alzheimers Dement 14(10):1293-1301
, 2018. Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease. Mov Disord 33(10):1591-1600
, 2017. Increased levels of cell-free mitochondrial DNA in the cerebrospinal fluid of patients with multiple sclerosis. Mitochondrion 34:32-35
, 2017. The angiogenic switch leads to a metabolic shift in human glioblastoma. Neuro Oncol 19(3):383-393
, 2017. Subcellular Parkinson's Disease-Specific Alpha-Synuclein Species Show Altered Behavior in Neurodegeneration. Mol Neurobiol 54(10):7639-7655
, 2017. No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy. Mitochondrion 32:10-15
, 2017. Familial aggregation of Parkinson's disease may affect progression of motor symptoms and dementia. Mov Disord 32(2):241-245
, 2017. In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. Biosci Rep 37.
, 2017. Simvastatin is associated with decreased risk of Parkinson disease. Ann Neurol 81(2):329-330
, 2017. The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations. Genet Med 19(11):1217-1225
, 2017. Understanding the Epilepsy in POLG Related Disease. Int J Mol Sci 18.
, 2017. Glitazone use associated with reduced risk of Parkinson's disease. Mov Disord 32(11):1594-1599
, 2017. The presence of anaemia negatively influences survival in patients with POLG disease. J Inherit Metab Dis 40(6):861-866
, 2017. [Multiple sclerosis - a mitochondria-mediated disease?] Tidsskr Nor Laegeforen 137(4):284-287
, 2016. Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease. Nat Commun 7:13548
, 2016. Mitochondrial DNA homeostasis is essential for nigrostriatal integrity. Mitochondrion 28:33-7
, 2016. Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. PLoS One 11(2):e0149055
, 2016. Nigrostriatal denervation sine parkinsonism. Brain 139(Pt 4):e25
, 2015. A woman in her 70s with chronic walking difficulties. Tidsskr Nor Laegeforen 135(19):1753-5
, 2015. A man in his 50s with high ferritin levels and increasing cognitive impairment. Tidsskr Nor Laegeforen 135(15):1369-72
, 2015. Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report. BMC Res Notes 8:171
, 2015. Practical guidance for CD management involving treatment of botulinum toxin: a consensus statement. J Neurol 262(10):2201-13
, 2015. HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia. Proc Natl Acad Sci U S A 112(18):E2268
, 2014. Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLoS One 9(1):e86340
, 2014. Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation. J Neurol 261(2):358-62
, 2014. Molecular pathogenesis of polymerase γ-related neurodegeneration. Ann Neurol 76(1):66-81
, 2014. A multicenter study on Leigh syndrome: disease course and predictors of survival. Orphanet J Rare Dis 9:52
, 2013. Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLoS One 8(6):e66145
, 2013. Progressive striatal necrosis associated with anti-NMDA receptor antibodies. BMC Neurol 13:55
, 2013. Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations. Brain 136(Pt 8):2393-404
, 2013. MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet J Rare Dis 8:1
, 2012. Erdheim-Chester disease presenting with an intramedullary spinal cord lesion. J Neurol 259(10):2240-2
, 2012. Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. J Neurol 259(2):292-6
, 2012. Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population. Mitochondrion 12(6):640-3
, 2012. Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects. Brain 135(Pt 12):3627-34
, 2010. Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain 133(Pt 5):1428-37
, 2010. Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy. Biochim Biophys Acta 1802(6):539-44
, 2009. Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. Epilepsy Behav 16(1):172-4
, 2009. Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. Stroke 40(2):e15-7
, 2008. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. J Neurol 255(8):1142-4
, 2008. Melas associated with mutations in the polg1 gene. Neurology 70(13):1054; author reply 1054-5
, 2008. POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Brain 131(Pt 3):818-28
, 2006. [A 90-year-old woman with acute hemiparesis]. Tidsskr Nor Laegeforen 126(15):1931-3
, 2006. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 129(Pt 7):1685-92
Publication list retrieved from NCBI using ImpactPubs
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